ETL3
MCID: EPL128
MIFTS: 29

Epilepsy, Familial Temporal Lobe, 3 (ETL3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 3

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 3:

Name: Epilepsy, Familial Temporal Lobe, 3 56
Epilepsy, Familial Mesial Temporal Lobe 56 13 71
Familial Temporal Lobe Epilepsy 3 12 15
Fmtle 56 12
Epilepsy, Familial Mesial Temporal Lobe; Fmtle 56
Familial Mesial Temporal Lobe Epilepsy 12
Etl3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
relatively benign course
onset usually in second decade
genetic heterogeneity (see etl2, )


HPO:

31
epilepsy, familial temporal lobe, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0060750
OMIM 56 611630
OMIM Phenotypic Series 56 PS600512
MedGen 41 C1968848
UMLS 71 C1968848

Summaries for Epilepsy, Familial Temporal Lobe, 3

Disease Ontology : 12 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 3, also known as epilepsy, familial mesial temporal lobe, is related to focal epilepsy and febrile seizures, familial, 11, and has symptoms including dizziness An important gene associated with Epilepsy, Familial Temporal Lobe, 3 is FMTLE (Epilepsy, Familial Mesial Temporal Lobe), and among its related pathways/superpathways is LGI-ADAM interactions. Affiliated tissues include temporal lobe, and related phenotypes are vertigo and focal impaired awareness seizure

More information from OMIM: 611630 PS600512

Related Diseases for Epilepsy, Familial Temporal Lobe, 3

Diseases in the Temporal Lobe Epilepsy family:

Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Familial Temporal Lobe, 2
Epilepsy, Familial Temporal Lobe, 3 Epilepsy, Familial Temporal Lobe, 4
Epilepsy, Familial Temporal Lobe, 5 Epilepsy, Familial Temporal Lobe, 6
Epilepsy, Familial Temporal Lobe, 7 Epilepsy, Familial Temporal Lobe, 8

Diseases related to Epilepsy, Familial Temporal Lobe, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 focal epilepsy 30.0 LGI2 LGI1 DEPDC5
2 febrile seizures, familial, 11 11.7
3 temporal epilepsy, familial 11.3
4 benign familial mesial temporal lobe epilepsy 11.3
5 epilepsy 10.5
6 temporal lobe epilepsy 10.3
7 migraine with or without aura 1 10.2
8 visual epilepsy 10.2
9 encephalitis 10.2
10 limbic encephalitis 10.2
11 febrile seizures 10.2
12 seizure disorder 10.2
13 autosomal dominant epilepsy with auditory features 10.1 LGI1 DEPDC5
14 partial motor epilepsy 10.1 LGI1 DEPDC5
15 deafness, autosomal recessive 98 10.0 LGI2 LGI1
16 neonatal period electroclinical syndrome 10.0 LGI1 DEPDC5
17 autosomal dominant nocturnal frontal lobe epilepsy 10.0 LGI1 DEPDC5
18 corneal dystrophy, fleck 9.9 LGI2 DEPDC5
19 generalized epilepsy with febrile seizures plus 9.9 LGI1 DEPDC5
20 epileptic encephalopathy, early infantile, 6 9.8 LGI1 DEPDC5
21 episodic ataxia 9.8 LGI1 KCNAB1
22 benign epilepsy with centrotemporal spikes 9.7 SZT2 LGI1 DEPDC5
23 epilepsy, myoclonic juvenile 9.6 LGI1 DEPDC5
24 early infantile epileptic encephalopathy 9.6 SZT2 LGI1 DEPDC5
25 benign familial infantile epilepsy 9.4 LGI3 LGI2 LGI1 DEPDC5
26 epilepsy, familial temporal lobe, 1 9.0 LGI3 LGI2 LGI1 LCOR KCNAB1

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 3:



Diseases related to Epilepsy, Familial Temporal Lobe, 3

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 3

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 3:

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 focal impaired awareness seizure 31 HP:0002384
3 focal aware seizure 31 HP:0002349
4 deja vu 31 HP:0012005

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dizziness
complex partial seizures
simple partial seizures
no hippocampal sclerosis
deja vu feeling
more

Clinical features from OMIM:

611630

UMLS symptoms related to Epilepsy, Familial Temporal Lobe, 3:


dizziness

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 3

Genetic Tests for Epilepsy, Familial Temporal Lobe, 3

Anatomical Context for Epilepsy, Familial Temporal Lobe, 3

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 3:

40
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 3

Articles related to Epilepsy, Familial Temporal Lobe, 3:

(show all 20)
# Title Authors PMID Year
1
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. 61 56
17377072 2007
2
Familial mesial temporal lobe epilepsy and the borderland of déjà vu. 61
28681459 2017
3
DEPDC5-Related Epilepsy 61
27683934 2016
4
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. 61
26216793 2015
5
Longitudinal analysis of hippocampal T2 relaxometry in FMTLE. 61
24926943 2014
6
A new locus for familial temporal lobe epilepsy on chromosome 3q. 61
24021842 2013
7
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy. 61
23197748 2012
8
Longitudinal MRI volumetric evaluation in patients with familial mesial temporal lobe epilepsy. 61
21431086 2011
9
Familial mesial temporal lobe epilepsies: clinical and genetic features. 61
19469849 2009
10
Mesial temporal lobe epilepsy: clinical and neuropathologic findings of familial and sporadic forms. 61
18294201 2008
11
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. 61
18004642 2008
12
Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy. 61
17420821 2007
13
THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy. 61
16914293 2006
14
Genetic focal epilepsies: state of the art and paths to the future. 61
16359475 2005
15
Evidence of memory impairment in asymptomatic individuals with hippocampal atrophy. 61
15582848 2004
16
Structural abnormalities are similar in familial and nonfamilial mesial temporal lobe epilepsy. 61
15376482 2004
17
Abnormalities of hippocampal signal intensity in patients with familial mesial temporal lobe epilepsy. 61
15264025 2004
18
Outcome of surgical treatment in familial mesial temporal lobe epilepsy. 61
12887440 2003
19
Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy. 61
12578919 2003
20
Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy. 61
12470176 2002

Variations for Epilepsy, Familial Temporal Lobe, 3

Expression for Epilepsy, Familial Temporal Lobe, 3

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 3.

Pathways for Epilepsy, Familial Temporal Lobe, 3

Pathways related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 LGI3 LGI2 LGI1

GO Terms for Epilepsy, Familial Temporal Lobe, 3

Cellular components related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.43 SZT2 DEPDC5 C12orf66
2 lysosomal membrane GO:0005765 9.33 SZT2 DEPDC5 C12orf66
3 GATOR1 complex GO:1990130 8.96 SZT2 DEPDC5
4 KICSTOR complex GO:0140007 8.62 SZT2 C12orf66

Biological processes related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to glucose starvation GO:0042149 9.26 SZT2 C12orf66
2 protein localization to lysosome GO:0061462 9.16 SZT2 C12orf66
3 cellular response to amino acid starvation GO:0034198 9.13 SZT2 DEPDC5 C12orf66
4 negative regulation of TORC1 signaling GO:1904262 8.8 SZT2 DEPDC5 C12orf66

Sources for Epilepsy, Familial Temporal Lobe, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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